Genetic Susceptibility and Influence of the Microbiomae in Bullous Pemphigoid (MICROPB)

Autoimmune bullous dermatoses include pemphigus, bullous pemphigoid, pemphigoid gestationis, linear IgA dermatosis, mucous membrane pemphigoid, lichen planus pemphigoid, anti-p200 pemphigoid, epidermolysis bullosa acquisita and dermatitis herpetiformis. Autoimmune bullous dermatoses are rare and have an incidence of 20-60 new cases per 1 million person- year in Europe. The incidence of the individual entities is slight significantly different within Europe, but strongly also in comparison to other countries such as Kuwait, Singapore, USA and South America. The most common of these disorders is the bullous pemphigoid.

A considerable progress has been made in the last years to elucidate the pathogenic role of autoantibodies in these diseases. To this end, various in vitro and animal experiments have been used to understand some basic pathophysiological mechanisms in these diseases. Further studies are currently being carried out to explain a precise elucidation of the disease process and to be able to treat the patients targeted later.

At present, however, no data are available to explain why certain individuals develop the autoimmune disease and others do not. Epidemiological studies showed some triggers to the development of autoimmune dysregulation, e.g. drugs.

Furthermore, it has been shown that genetic factors play a role in the pathogenesis of the disease. A clear association with certain HLA regions have been shown in patients with pemphigus, e.g. about 95% of pemphigus patients from the group of Ashkenazi Jews have the HLA-DRB1*0402 haplotype. Recently, the first non-HLA gene associated with pemphigus was described. For other conditions such as bullous pemphigoid, pemphigoid gestationis or linear IgA dermatosis the association with HLA antigens is less pronounced. Another indication of the importance of the genetic background in these diseases can be elucidated from the observation of autoantibodies at a low concentration in healthy relatives of pemphigus patients.

Study Overview

• Status: Unknown
• Conditions: Bullous Pemphigoid
• Intervention / Treatment: Other: Blood sample and cotton skin swabs

Detailed Description

Study genetic and microbiologic predisposition of patients developing a bullous pemphigoid from peripheral blood and skin flora.

• Study Type: Interventional
• Enrollment (Anticipated): 100
• Phase: Not Applicable

Contacts and Locations

Study Locations

• France
  • Reims, France, 51092
    • Recruiting
    • CHU de Reims
    • Contact: Philippe BERNARD; Email: pbernard@chu-reims.fr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

Inclusion Criteria:

• patients with bullous pemphigoid in active phase
• patients with basal cell carcinoma or squamous cell carcinoma and without inflammatory skin disease
• patient consenting to participate to the study
• patient enrolled in the national healthcare insurance program
• patient older than 18 years

Exclusion Criteria:

- patients with pemphigoid gestationis

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Basic Science
• Allocation: Non-Randomized
• Interventional Model: Parallel Assignment
• Masking: None (Open Label)

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: bullous pemphigoid; patients with bullous pemphigoid	Other: Blood sample and cotton skin swabs
Active Comparator: no bullous pemphigoid; patients with basal cell carcinoma or squamous cell carcinoma and without inflammatory skin disease	Other: Blood sample and cotton skin swabs

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
HLA haplotype	the genetic susceptibility in patients bullous pemphigoid were studied by the search of an association between bullous pemphigoid and a particular HLA haplotype	Day 1

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
micro satellite markers	the genetic susceptibility in patients bullous pemphigoid were studied by the search of an association between bullous pemphigoid and micro satellite markers, or SNPs (single nucleotide polymorphisms)	Day 1
SNPs (single nucleotide polymorphisms)	the genetic susceptibility in patients bullous pemphigoid were studied by the search of an association between bullous pemphigoid and SNPs (single nucleotide polymorphisms)	Day 1
Skin's Bacteria	Analysis of skin microbiome (type and number of bacteria) of patients with bullous pemphigoid, compared with patients without bullous pemphigoid	Day 1

Collaborators and Investigators

• Sponsor: CHU de Reims

Study record dates

Study Major Dates

• Study Start: December 1, 2015
• Primary Completion (Anticipated): October 1, 2017
• Study Completion (Anticipated): March 1, 2018

Study Registration Dates

• First Submitted: August 11, 2016
• First Submitted That Met QC Criteria: August 16, 2016
• First Posted (Estimate): August 22, 2016

Study Record Updates

• Last Update Posted (Estimate): October 5, 2016
• Last Update Submitted That Met QC Criteria: October 4, 2016
• Last Verified: October 1, 2016

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Skin Diseases; Immune System Diseases; Autoimmune Diseases; Disease Attributes; Skin Diseases, Vesiculobullous; Disease Susceptibility; Pemphigoid, Bullous; Genetic Predisposition to Disease
• Other Study ID Numbers: PO15125

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No